Congenital Disorders of Glycosylation Report


Congenital Disorders of Glycosylation

Congenital disorders of glycosylation (CDG) include a large group of rare genetic diseases in which the process of adding sugar molecules (glycans) to cellular proteins is impaired. This post-translational chemical modification is called "glycation" and is fundamental for the functionality of cells and the organism. There are many subtypes of CDG. The symptoms are vast and involve different parts of the body. Among the most common symptoms are low muscle tone or flaccidity (hypotonia), liver disease, strabismus, developmental delays, abnormal bleeding or blood clotting, stroke-like episodes and heart problems. There is currently no cure for Congenital disorders of glycosylation; treatment is based on symptom management and is aimed at improving the quality of life of affected people.

51 genes analyzed

It is recommended if:

This test may be appropriate for patients in whom a congenital disorder of glycosylation is suspected due to clinical symptoms or biochemical findings. Genetic testing can help in diagnosis and in providing information on risks for other family members.

List of main conditions:

  • Congenital disorder of glycosylation, type Ic
  • Congenital disorder of glycosylation, type Ia
  • Congenital disorder of glycosylation, type Ig
  • Congenital disorder of glycosylation, type Il
  • Available in less than 24 hours
  • Based on Whole Genome Sequencing
  • Investigates SNP and Indel mutations up to 150 bp


How will my data be used?

Your data is yours. Which is why we have developed proprietary software linked to a dedicated platform, the Genome Manager, to provide you with unique access to your data whenever you want, wherever you are.

How can my doctor use the results?

You will be provided with a digital version of the raw data and reports. Thanks to these in-depth tools, you will be able to share your preferred information with your geneticist and/or doctor to indicate and plan the healthiest course for you. 

How will I receive my reports?

The first thing to do when you receive your kit is to register it on your Genome Manager account. Dante's proprietary platform will keep you up-to-date on all stages of your genetic journey, providing you with the real-time status of your sample and where you can download your free report and raw data* at any time.

*Raw data will be available free of charge for the first 30 days after release.

How can I add other reports to my account?

At any time, you can log into your Genome Manager account and visit the Shop section. Here you will find a catalog with more than 150 additional reports dedicated to all areas of health. In addition, by subscribing to our newsletter you can always see new reports and panel updates.

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